Linked Data
ClinVar Variation Id:
2080883
ClinVar RCV Id:
RCV003002266
MyVariant Identifiers:
chr11:g.124506994C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124637098C>T , CM000673.2:g.124637098C>T | GRCh38 |
| NC_000011.9:g.124506994C>T , CM000673.1:g.124506994C>T | GRCh37 |
| NC_000011.8:g.124012204C>T | NCBI36 |
| NG_028132.1:g.44206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263593.8:c.1425G>A MANE Select | ENSP00000263593.3:p.Val475= | |
| ENST00000263593.7:c.1425G>A | ENSP00000263593.3:p.Val475= | |
| ENST00000545756.5:c.1320G>A | ENSP00000437877.1:p.Val440= | |
| ENST00000618733.4:c.1320G>A | ENSP00000478211.1:p.Val440= | |
| NM_001199922.1:c.1320G>A | NP_001186851.1:p.Val440= | |
| NM_170601.4:c.1425G>A | NP_733746.1:p.Val475= | |
| XM_011542874.1:c.852G>A | XP_011541176.1:p.Val284= | |
| XM_017017930.1:c.852G>A | XP_016873419.1:p.Val284= | |
| NM_170601.5:c.1425G>A MANE Select | NP_733746.1:p.Val475= | |
| NM_001199922.2:c.1320G>A | NP_001186851.1:p.Val440= |